TY - JOUR
T1 - An omic approach to congenital diaphragmatic hernia
T2 - a pilot study of genomic, microRNA, and metabolomic profiling
AU - Piersigilli, Fiammetta
AU - Syed, Mansoor
AU - Lam, Tu Kiet T.
AU - Dotta, Andrea
AU - Massoud, Michela
AU - Vernocchi, Pamela
AU - Quagliariello, Andrea
AU - Putignani, Lorenza
AU - Auriti, Cinzia
AU - Salvatori, Guglielmo
AU - Bagolan, Pietro
AU - Bhandari, Vineet
N1 - Publisher Copyright:
© 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.
PY - 2020/6/1
Y1 - 2020/6/1
N2 - Introduction: The omic approach can help identify a signature that can be potentially used as biomarkers in babies with congenital diaphragmatic hernia (CDH). Objectives: To find a specific microRNA (miR) and metabolic fingerprint of the tracheal aspirates (TA) of CDH patients. We conducted a genetic analysis from blood samples. Methods: TA samples collected in the first 48 h of life in patients with CDH, compared with age-matched controls. Metabolomics done by a mass spectroscopy-based assay. Genomics done using chromosomal microarray analysis. Results: CDH (n = 17) and 16 control neonates enrolled. miR-16, miR-17, miR-18, miR-19b, and miR-20a had an increased expression, while miR-19a had a twofold decreased expression in CDH patients, compared with age-matched control patients. Specific metabolites separated neonates with CDH from controls. A genetic mutation found in a small subset of patients. Conclusions: Specific patterns of metabolites and miR expression can be discerned in TA samples in infants with CDH.
AB - Introduction: The omic approach can help identify a signature that can be potentially used as biomarkers in babies with congenital diaphragmatic hernia (CDH). Objectives: To find a specific microRNA (miR) and metabolic fingerprint of the tracheal aspirates (TA) of CDH patients. We conducted a genetic analysis from blood samples. Methods: TA samples collected in the first 48 h of life in patients with CDH, compared with age-matched controls. Metabolomics done by a mass spectroscopy-based assay. Genomics done using chromosomal microarray analysis. Results: CDH (n = 17) and 16 control neonates enrolled. miR-16, miR-17, miR-18, miR-19b, and miR-20a had an increased expression, while miR-19a had a twofold decreased expression in CDH patients, compared with age-matched control patients. Specific metabolites separated neonates with CDH from controls. A genetic mutation found in a small subset of patients. Conclusions: Specific patterns of metabolites and miR expression can be discerned in TA samples in infants with CDH.
UR - https://www.scopus.com/pages/publications/85079783990
UR - https://www.scopus.com/pages/publications/85079783990#tab=citedBy
U2 - 10.1038/s41372-020-0623-3
DO - 10.1038/s41372-020-0623-3
M3 - Article
C2 - 32080334
AN - SCOPUS:85079783990
SN - 0743-8346
VL - 40
SP - 952
EP - 961
JO - Journal of Perinatology
JF - Journal of Perinatology
IS - 6
ER -